Variant (rsID / SNP)
rs147937942
rs147937942 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CPS1. Location: chromosome 2, position 211,421,429. Clinical significance in the table: Benign.
Reference-table entries
CPS1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:211421429
- Cytoband
- 2q34
- HGVS
- NM_001875.5(CPS1):c.-29T>G
- Allele change
- Silent
Associated conditions / phenotypes
Congenital hyperammonemia, type I
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.